Hs02905188_cn

• Gene Symbol: AP2A1
• Assay Reference Genome Location: Chr.19:49791943 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 160
• Gene Name: adaptor related protein complex 2 alpha 1 subunit
• Gene Aliases: ADTAA, AP2-ALPHA, CLAPA1
• Location: Chr.19:49766923-49807114 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AP2A1	NM_014203.2			NP_055018.2
	NM_130787.2			NP_570603.2
	XM_011526556.2			XP_011524858.1
	XM_011526557.2			XP_011524859.1
	AK124343.1
	AK302005.1
	AL136925.1			CAB66859.1
	BC014214.2			AAH14214.1

Target Gene Details

• Entrez Gene ID: 102465479
• Gene Name: microRNA 6799
• Gene Aliases: hsa-mir-6799
• Location: Chr.19:49791866-49791934 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIR6799	NR_106857.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	TRPM4 MIR4749 CGB8 SNAR-A14 ADM5 LOC101928295 SNAR-A13 FUT2 NOSIP HSD17B14 CABP5 IL4I1 MAMSTR BSPH1 SNAR-B2 FLT3LG ZNF473 AP2A1 GFY MIR6798 C19orf68 NUCB1-AS1 SNAR-A2 SIGLEC11 PTOV1-AS1 MIR4324 MIR4751 TSKS FUT1 TMEM143 MIR150 EMP3 CGB5 CGB7 KDELR1 FLJ26850 HRC KCNJ14 PLEKHA4 FUZ TEAD2 PPFIA3 SNAR-A3 SNAR-A7 SNAR-A8 SNAR-C1 SNORD33 SNRNP70 SPACA4 DKKL1 FAM83E PRR12 SNAR-G2 RUVBL2 SEC1P FCGRT ALDH16A1 FGF21 SNAR-C4 GYS1 RASIP1 SNAR-D SNAR-A4 SIGLEC16 CD37 AKT1S1 PTOV1-AS2 SNAR-A11 KCNA7 IZUMO1 SCAF1 LMTK3 BCAT2 PIH1D1 SNAR-C2 TBC1D17 SNAR-A1 LOC100287477 CYTH2 MIR4750 LOC101059948 SNORD35A DHDH GRWD1 SNAR-G1 SNAR-B1 PTOV1 RCN3 RRAS SNAR-A5 SNAR-C5 NUCB1 FTL CCDC114 SNAR-A10 MIR6800 BCL2L12 SLC17A7 SNORD34 CGB3 ELSPBP1 SNAR-C3 MIR6799 GRIN2D PRMT1 RPS11 PRRG2 PTH2 CGB2 PLA2G4C RPL18 SULT2B1 VRK3 SNORD35B LIG1 SNORD32A LHB CGB1 LOC105372430 IRF3 CARD8 C19orf73 SYNGR4 NUP62 MIR5088 NTF4 PNKP SNAR-A12 BAX PLA2G4C-AS1 LOC105447645 ATF5 SNAR-A9 PPP1R15A MED25 RPL13A TULP2 CA11 NTN5 SLC6A16 CARD8-AS1 CPT1C ZNF114 SPHK2 DBP LIN7B SNAR-A6 CCDC155
nsv470150	Chr.19:49618821 - 49856789 on Build GRCh38	Gain	MED25 MIR4749 PTOV1 RRAS SCAF1 PTOV1-AS1 ADM5 FUZ TSKS MIR6800 IRF3 BCL2L12 CPT1C AP2A1 MIR5088 PTOV1-AS2 PRR12 MIR6799 PRMT1
dgv53n68	Chr.19:49724393 - 49943224 on Build GRCh38	Loss	ATF5 MED25 MIR4749 PTOV1 PTOV1-AS1 FUZ MIR4751 TSKS TBC1D17 MIR6800 IL4I1 MIR4750 NUP62 AP2A1 AKT1S1 PTOV1-AS2 PNKP MIR6799
nsv953600	Chr.19:49555044 - 49938043 on Build GRCh38	Deletion	PRRG2 MIR4749 SCAF1 ADM5 FUZ NOSIP TBC1D17 IL4I1 IRF3 MIR4750 NUP62 AP2A1 MIR5088 PNKP PRR12 ATF5 MED25 PTOV1 RRAS PTOV1-AS1 MIR4751 TSKS MIR6800 BCL2L12 CPT1C AKT1S1 PTOV1-AS2 MIR6799 PRMT1
nsv1160655	Chr.19:49489110 - 49841830 on Build GRCh38	Deletion	PRRG2 SCAF1 ADM5 FUZ SNORD35B SNORD32A NOSIP IRF3 SNORD33 AP2A1 MIR5088 SNORD35A PRR12 FCGRT MED25 RCN3 RRAS PTOV1-AS1 RPL13A TSKS MIR6800 BCL2L12 CPT1C MIR150 SNORD34 MIR6799 PRMT1 RPS11
nsv524546	Chr.19:49786602 - 49792888 on Build GRCh38	Loss	AP2A1 MIR6799
nsv518114	Chr.19:49789853 - 49792888 on Build GRCh38	Loss	AP2A1 MIR6799

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
Golgi to endosome transport
endocytosis
microtubule-based movement
antigen processing and presentation of exogenous peptide antigen via MHC class II
negative regulation of epidermal growth factor receptor signaling pathway
ephrin receptor signaling pathway
regulation of defense response to virus by virus
Wnt signaling pathway, planar cell polarity pathway
clathrin-mediated endocytosis
negative regulation of hyaluronan biosynthetic process

Function(s)

protein binding
protein C-terminus binding
protein transporter activity
protein kinase binding
protein complex binding
clathrin adaptor activity